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GeneE
10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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TOX4
TOX high mobility group box family member 4
Chromosome 14 · 14q11.2
NCBI Gene: 9878Ensembl: ENSG00000092203.16HGNC: HGNC:20161UniProt: O94842
85PubMed Papers
20Diseases
0Drugs
0Pathogenic Variants
FUNCTIONAL ROLE
Highly ConstrainedTranscription Factor
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
chromosome, telomeric regionprotein bindingRNA polymerase II promoter clearancepositive regulation of transcription elongation by RNA polymerase IIneurodegenerative diseaseosteoarthritis, hiplung cancermetabolic syndrome
✦AI Summary

TOX4 (TOX high mobility group box family member 4) is a transcriptional regulator that functions as a component of protein phosphatase 1 (PP1) complexes, particularly the PNUTS-PP1 complex 1. Its primary function involves modulating RNA polymerase II (Pol II) transcriptional regulation through facilitating C-terminal domain (CTD) dephosphorylation, which restricts pause release while promoting late elongation and transcriptional reinitiation 12. TOX4 preferentially binds PP1α and demonstrates chr14 occupancy patterns resembling those of Pol II 1. Beyond transcription, TOX4 plays a crucial role in DNA repair by promoting nonhomologous end joining (NHEJ) through its association with DNA-dependent protein kinase complexes 3. In metabolic regulation, TOX4 acts as an insulin receptor-independent regulator of hepatic glucose production, controlling gluconeogenic genes like G6PC1 and PCK1 4. During development, TOX4 is essential for T cell development, affecting thymic cellularity and CD8/CD4 ratios through regulation of proliferation and apoptosis 2. Clinically, TOX4 expression is elevated in diabetic liver tissue and represents a potential therapeutic target for type 2 diabetes 45. Additionally, genetic variants in TOX4 have been associated with alcohol-associated hepatitis risk 6.

Sources cited
1
TOX4 functions as PP1 complex component regulating RNA polymerase II CTD dephosphorylation and transcriptional pause-release
PMID: 35365735
2
TOX4 promotes DNA double-strand break repair via nonhomologous end joining through DNA-PK complex association
PMID: 40328361
3
TOX4 acts as insulin receptor-independent regulator of hepatic glucose production and is elevated in diabetic liver
PMID: 34914893
4
TOX4 regulates T cell development and affects transcriptional elongation and reinitiation
PMID: 37286708
5
TOX4 represents a promising therapeutic target for type 2 diabetes management
PMID: 41029921
6
TOX4 genetic variants are associated with alcohol-associated hepatitis risk
PMID: 39058584
Disease Associationsⓘ20
neurodegenerative diseaseOpen Targets
0.43Moderate
osteoarthritis, hipOpen Targets
0.15Weak
lung cancerOpen Targets
0.08Suggestive
metabolic syndromeOpen Targets
0.07Suggestive
neoplasmOpen Targets
0.07Suggestive
acute myeloid leukemiaOpen Targets
0.07Suggestive
maturity-onset diabetes of the young type 3Open Targets
0.04Suggestive
MODYOpen Targets
0.04Suggestive
hyperinsulinism due to INSR deficiencyOpen Targets
0.04Suggestive
3-hydroxy-3-methylglutaryl-CoA synthase deficiencyOpen Targets
0.04Suggestive
exercise-induced hyperinsulinismOpen Targets
0.04Suggestive
Glycogen storage disease due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
glycogen storage disorder due to hepatic glycogen synthase deficiencyOpen Targets
0.04Suggestive
dicarboxylic aminoaciduriaOpen Targets
0.04Suggestive
hyperproinsulinemiaOpen Targets
0.04Suggestive
acute kidney injuryOpen Targets
0.04Suggestive
glycogen storage disease IIIOpen Targets
0.03Suggestive
histidinemiaOpen Targets
0.03Suggestive
hyperinsulinism due to glucokinase deficiencyOpen Targets
0.03Suggestive
hyperinsulinism-hyperammonemia syndromeOpen Targets
0.03Suggestive
Pathogenic Variants
No pathogenic variants reported on ClinVar for this gene.
View on ClinVar ↗
Related Genes
PPP1R12AProtein interaction100%PPP1CBProtein interaction100%PPP1CCProtein interaction100%WDR82Protein interaction87%PPP1R10Protein interaction73%PPP1CAProtein interaction67%
Tissue Expression6 tissues
Brain
100%
Heart
84%
Lung
69%
Ovary
56%
Liver
55%
Bone Marrow
52%
Gene Interaction Network
Click a node to explore
TOX4PPP1R12APPP1CBPPP1CCWDR82PPP1R10PPP1CA
PROTEIN STRUCTURE
Preparing viewer…
PDB9CI7 · 2.10 Å · X-ray
View on RCSB ↗
Constraintⓘ
LOEUFⓘ
0.31Highly Constrained
pLIⓘ
1.00Intolerant
Observed/Expected LoF0.19 [0.12–0.31]
RankingsWhere TOX4 stands among ~20K protein-coding genes
  • #5,645of 20,598
    Most Researched85
  • #1,230of 17,882
    Most Constrained (LOEUF)0.31 · top 10%
Genes detectedTOX4
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
TOX4 facilitates promoter-proximal pausing and C-terminal domain dephosphorylation of RNA polymerase II in human cells.
PMID: 35365735
Commun Biol · 2022
1.00
2
TOX High-Mobility Group Box Family Member 4 promotes DNA double-strand break repair via nonhomologous end joining.
PMID: 40328361
J Biol Chem · 2025
0.90
3
TOX4, an insulin receptor-independent regulator of hepatic glucose production, is activated in diabetic liver.
PMID: 34914893
Cell Metab · 2022
0.80
4
Tox4 regulates transcriptional elongation and reinitiation during murine T cell development.
PMID: 37286708
Commun Biol · 2023
0.70
5
TOX4 Inhibition in Chronic Hyperglycemia: Effects on Glycation Stress, Hepatic Protection, Epigenetic Mechanisms, Signaling Pathways, and Beta Cell Dynamics.
PMID: 41029921
Curr Drug Metab · 2025
0.60